Congenital Heart Defect
Gene: ZIC3

ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pathogenic loss of function variants reported in >5 patients with heterotaxy

PMID: 27406248; Paulussen 2016: Reported 6 pathogenic variants in a cohort of patients with congenital heart disease including heterotaxy and reviewed previously published cases. Functional studies performed confirming LoF mechanism.

PMID: 30120289; Li 2018: 1 additional hemi missense reported in a male patients inherited from carrier mother.
Created: 24 Nov 2023, 12:55 a.m. | Last Modified: 24 Nov 2023, 12:55 a.m.

Panel Version: 0.374

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Heterotaxy, visceral, 1, X-linked (MIM#306955)

Publications

Created: 24 Nov 2023, 12:55 a.m.
Last Modified: 24 Nov 2023, 12:55 a.m.
Panel version: 0.374

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Heterotaxy, visceral, 1, X-linked (MIM#306955)

OMIM

300265

Clinvar variants

Variants in ZIC3

Penetrance

None

Publications

Panels with this gene